Tuesday, February 02, 2010

Right there in Black and White

The organization Cure CMD recently established an International Registry which was created to identify the global CMD population for the purpose of raising awareness, standards of care, clinical trials and, hopefully in the future, a treatment or cure.  I decided I should probably register Jack because it's the right thing to do.  Typically, I wouldn't participate in this type of thing because I try to stay as far removed from anything to do with muscular dystrophy as I can.  I've declined membership into MDA and Jerry's club for years.  (As if not participating in anything muscular dystrophy related makes it not so in my life.)  However, because Jack's neurologist is actively involved with Cure CMD and because I've had the opportunity to work with the founders of Cure CMD on several projects, I feel a connection (and responsibility) to this particular group.

As part of registering Jack on the Cure CMD International Registry, they ask their registrants to provide documentation to support the diagnosis.  I requested that Jack's muscle biopsy report from 2005 be sent to the Cure CMD genetic counselor. I also requested a copy be sent to me.  

Not such a good idea.

"H&E shows severely abnormal muscle with prominent replacement by fat."  

Well, that sucks.

"Congenital muscular dystrophy is more likely than a progressive muscular dystrophy given the mild pattern of active myopathic changes"

Despite the obvious, I've never fully wrapped my head around the reality that my kid actually has muscular dystrophy.  But right there in black and white are the words I refused to believe for so many years - Muscular Dystrophy.   Absolutely, undeniably, no doubt about it.  

That double sucks.

The fact that his disease is considered non-progressive is a double-edge sword as far as I'm concerned.  (and I'll leave it at that for now).

I remember in the beginning of this journey, all I wanted was information.  Now, I just want to bury my head in the sand and ignore the information available because I don't like what I'm hearing.  

Anyone want to join me on my trip to the island of ignorance is bliss?


Be ignorance thy choice,
where knowledge leads to woe.
James Beattie


Rachel said...

I'm right there with you, Ann. I was just having a conversation about this with a friend...how I try not to think about Gabe's diagoneses too often... it hurts too badly. It's just easier most of the time to just keep plowing forward and not think about it too much. When I stop too long and reflect, the sadness hits. I am so thankful to know I'm not leading this life alone and there are friends like you to lean on for encouragement and support. I'm proud of you for what you're doing in supporting Cure MD...Love ya!

ssouth said...

I understand a little Ann. Non-progressive can mean just stuck in the muck and mire with no hope for change.

I sometimes feel guilty that Ben got a gentler roll of the dice than Jack. I wish it could be different for you.

You've heard and discovered all the positive slants and shiny clouds out there, but sometimes it's really okay to yell and scream about the shittiness of it all. We all love you and know you'll see this through with incredible grace, ever bending and never breaking.

worthy said...

I'm so sorry Ann, I'd happily join you on a trip to ignorance and bliss! Funny you should bring this up now, Sam has just been doing some assessments at school and there is so much he can't do. I just try to see the positive - what he CAN do, and hope that will see us through! (((HUGS)))

John and Jenna Gensic said...

We think of you often. It is interesting, this phrase "ignorance is bliss." You already know how to take care of all of Jack's physical and emotional needs, so I can understand how the constant reminders don't really help. We're praying for your family and great job supporting the cure.


Anonymous said...

I attended a meeting held by a doctor who specializes in mito disease from Boston. He was excited to talk about the latest and greatest on the improvements they've made in diagnosing different forms of the disorder. Despite all this, there have been no new forms of treatment. I left trying to understand what the point of the meeting was.....

Can I come to your Island of Ignorance is Bliss? I'll bring margaritas.

Stacey M

Karen said...

Yes, I would like to go to that island with you? When can I start packing? xoxox Karen

Anonymous said...

I will not only join you on that island. I will bring the beer.

Melisande said...

Big hugs Ann. Crappy isn't a good enough word for all of it any way you slice it.

Susan said...


Dana said...

I managed to block out all that the genetist said to me so much that I have to have my sister in law read me what I told her that night because I didn't want to remember. It didn't change life day to day for us.

Perhaps joining will help you all in some small way. Thanks for your posts.